help  | about  | cite  | software

Gene : ABCB6 Homo sapiens

Name  ? ATP binding cassette subfamily B member 6 (Langereis blood group) Cytological Location  2q35
Brief Description  ATP binding cassette subfamily B member 6 (Langereis blood group)
Description  This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]
  • synonyms:
  • ABC,
  • OTTHUMG00000133131,
  • MTABC3,
  • HGNC:47,
  • LAN,
  • uc002vkc.3,
  • umat,
  • ABCB6,
  • NM_005689,
  • MTABC3,
  • ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group),
  • umat,
  • PRP,
  • ATP-binding cassette, sub-family B (MDR/TAP), member 6,
  • EST45597,
  • AF070598,
  • ATP-binding cassette half-transporter
  • identifiers:
  • 10058,
  • ENSG00000115657,
  • ABCB6

Genome feature

Region: gene ? Length: 9187  
Location: 2:219209772-219218958 reverse strand Cyto location: 2q35


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

4 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

217 SN Ps

5 Cross References

18 Data Sets

16 Homologues

0 Located Features

97 Rna Seq Results